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

11 papers

NM_001042492.3

p.W837R

c.2509T>C

Surrounding Variants

12 papers

NM_001042492.3

p.W837R

c.2509T>A

3 papers

NM_001042492.3

p.W837G

c.2509T>G

1 paper

NM_001042492.3

p.W837_T841delFs

c.2510_2522del13

7 papers

NM_001042492.3

p.W837*

c.2510G>A

2 papers

NM_001042492.3

p.E836A

c.2507A>C

1 paper

NM_001042492.3

p.E836G

c.2507A>G

8 papers

NM_001042492.3

p.W837*

c.2511G>A

1 paper

NM_001042492.3

p.W837C

c.2511G>C

1 paper

NM_001042492.3

p.W837C

c.2511G>T

1 paper

NM_001042492.3

p.A846insFs

c.2537_2538ins25

1 paper

NM_001042492.3

p.I838F

c.2512A>T

1 paper

NM_001042492.3

p.E836Q

c.2506G>C