Varaico: Literature-Extracted Genetic Variants

TLN1

235 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in...

Pfam Domains

FERM_f0aa 4–83UCSCN-terminal or F0 domain of Talin-head FERM

FERM_Maa 201–313UCSCFERM central domain

IRSaa 313–400UCSCPTB domain (IRS-1 type)

Talin_middleaa 491–652UCSCTalin, middle domain

Talin_IBS2Baa 649–757UCSCTalin IBS2B domain

Talin_VBS2aa 794–909UCSCTalin VBS2 domain

Gene Aliases

HGNC Name

talin 1

HGNC Alias Symbol

ILWEQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006289.4

p.L684V

c.2050C>G

Surrounding Variants

1 paper

NM_006289.4

p.R692Q

c.2075G>A

1 paper

NM_006289.4

p.Q699*

c.2095C>T

1 paper

NM_006289.4

p.Q699K

c.2095C>A

2 papers

NM_006289.4

p.A718D

c.2153C>A

1 paper

NM_006289.4

p.S729S

c.2187A>T

1 paper

NM_006289.4

p.P730H

c.2189C>A

1 paper

NM_006289.4

p.V747M

c.2239G>A

1 paper

NM_006289.4

p.S752A

c.2254T>G

1 paper

NM_006289.4

p.A756V

c.2267C>T

1 paper

NM_006289.4

p.A769V

c.2306C>T

1 paper

NM_006289.4

p.Q776*

c.2326C>T

1 paper

NM_006289.4

p.G793E

c.2378G>A