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.Y1254H

c.3760T>C

Surrounding Variants

1 paper

NM_001042492.3

p.Y1254fs

c.3760_3761fs

1 paper

NM_001042492.3

p.L1253L

c.3759C>T

1 paper

NM_001042492.3

p.Y1254*

c.3762C>A

1 paper

NM_001042492.3

p.Y1254*

c.3762C>G

1 paper

NM_001042492.3

p.L1253_Q1255delFs

c.3759_3763del5

1 paper

NM_001042492.3

p.L1253I

c.3757C>A

1 paper

NM_001042492.3

p.Q1255K

c.3763C>A

4 papers

NM_001042492.3

p.L1253fs

c.3757_3758fs

5 papers

NM_001042492.3

p.Q1255*

c.3763C>T

1 paper

NM_001042492.3

p.L1253fs

c.3757_3758fs

3 papers

NM_001042492.3

p.Q1255R

c.3764A>G

2 papers

NM_001042492.3

p.Q1255H

c.3765A>C