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

2 papers

NM_006289.4

p.V2440E

c.7319T>A

Surrounding Variants

1 paper

NM_006289.4

p.Q2437E

c.7309C>G

4 papers

NM_006289.4

p.V2444D

c.7331T>A

2 papers

NM_006289.4

p.A2433T

c.7297G>A

1 paper

NM_006289.4

p.A2410S

c.7228G>T

1 paper

NM_006289.4

p.A2403P

c.7207G>C

1 paper

NM_006289.4

p.R2398W

c.7192C>T

1 paper

NM_006289.4

p.D2468G

c.7403A>G

1 paper

NM_006289.4

p.A2396_A2397Splc

c.7188+2T>C

1 paper

NM_006289.4

p.Q2475H

c.7425G>T

1 paper

NM_006289.4

p.Q2475H

c.7425G>C

1 paper

NM_006289.4

p.E2492G

c.7475A>G

1 paper

NM_006289.4

p.V2360A

c.7079T>C