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.D2635fs

c.7903_7904fs

Surrounding Variants

1 paper

NM_001042492.3

p.D2635fs

c.7903_7904fs

1 paper

NM_001042492.3

p.D2635delFs

c.7904delA

1 paper

NM_000267.3

p.Q2615_Y2619delFs

c.7843_7855del13

1 paper

NM_001042492.3

p.F2634C

c.7901T>G

1 paper

NM_001042492.3

p.Q2636_A2644delFs

c.7908_7932del25

1 paper

NM_000267.3

p.F2613_R2616delFs

c.7839_7846del8

1 paper

NM_001042492.3

p.Q2636fs

c.7906_7907fs

3 papers

NM_000267.3

p.Q2615*

c.7843C>T

NM_001042492.3

p.Q2636*

c.7906C>T

1 paper

NM_001042492.3

p.Q2636R

c.7907A>G

1 paper

NM_001042492.3

p.Q2636L

c.7907A>T

1 paper

NM_001042492.3

p.F2634_Y2642del0

c.7901_7924del24

1 paper

NM_001042492.3

p.Q2636_R2637insFs

c.7908_7909insT