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

3 papers

NM_001042492.3

p.L1773P

c.5318T>C

Surrounding Variants

1 paper

NM_001042492.3

p.L1773_F1778delFs

c.5319_5332del14

2 papers

NM_001042492.3

p.G1774E

c.5321G>A

3 papers

NM_000267.3

p.Q1754_F1757del4

c.5260_5270del12

1 paper

NM_001042492.3

p.V1772delFs

c.5315delT

2 papers

NM_001042492.3

p.Q1775*

c.5323C>T

1 paper

NM_001042492.3

p.K1771fs

c.5311_5312fs

4 papers

NM_000267.3

p.K1750E

c.5248A>G

NM_001042492.3

p.K1771E

c.5311A>G

1 paper

NM_001042492.3

p.S1776_C1792insFs

c.5327_5375dup49

7 papers

NM_000267.3

p.S1755*

c.5264C>A

NM_001042492.3

p.S1776*

c.5327C>A

7 papers

NM_000267.3

p.S1755*

c.5264C>G

NM_001042492.3

p.S1776*

c.5327C>G

1 paper

NM_001042492.3

p.S1776L

c.5327C>T

2 papers

NM_000267.3

p.K1750del1

c.5248_5249delAAA