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

1 paper

NM_006289.4

p.L133P

c.398T>C

Surrounding Variants

1 paper

NM_006289.4

p.R131*

c.391C>T

1 paper

NM_006289.4

p.E136G

c.407A>G

1 paper

NM_006289.4

p.Y127_S128ins1

c.381_382insATC

1 paper

NM_006289.4

p.N123I

c.368A>T

1 paper

NM_006289.4

p.K147_R153insFs

c.439_457dup19

1 paper

NM_006289.4

p.R153Q

c.458G>A

1 paper

NM_006289.4

p.K156E

c.466A>G

2 papers

NM_006289.4

p.Q163*

c.487C>T

1 paper

NM_006289.4

p.E170K

c.508G>A

1 paper

NM_006289.4

p.L171Splc

c.511+1G>A

1 paper

NM_006289.4

p.E189_T190delFs

c.566_569del4

1 paper

NM_006289.4

p.N75_G76delFs

c.224_227del4