Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042492.3

p.W1831R

c.5491T>C

Surrounding Variants

1 paper

NM_001042492.3

p.W1831R

c.5491T>A

1 paper

NM_001042492.3

p.W1831insFs

c.5493dupG

1 paper

NM_001042492.3

p.W1831fs

c.5491_5492fs

1 paper

NM_001042492.3

p.W1831_E1832insA

c.5491_5495ins3

1 paper

NM_000267.3

p.W1810fs

c.5428_5429fs

1 paper

NM_000267.3

p.W1810delFs

c.5428delT

8 papers

NM_000267.3

p.W1810*

c.5429G>A

NM_001042492.3

p.W1831*

c.5492G>A

7 papers

NM_000267.3

p.W1810*

c.5430G>A

NM_001042492.3

p.W1831*

c.5493G>A

3 papers

NM_000267.3

p.R1809H

c.5426G>A

NM_001042492.3

p.R1830H

c.5489G>A

8 papers

NM_000267.3

p.R1809P

c.5426G>C

NM_001042492.3

p.R1830P

c.5489G>C

10 papers

NM_000267.3

p.R1809L

c.5426G>T

NM_001042492.3

p.R1830L

c.5489G>T

6 papers

NM_001042492.3

p.R1830S

c.5488C>A

NM_000267.3

p.R1809S

c.5425C>A