Varaico: Literature-Extracted Genetic Variants

TMEM131

2q11.2 (UCSC)OMIM GTEx

103 papers

Pfam Domains

TMEM131_like_Naa 108–191UCSCTransmembrane protein 131-like N-terminal

Ig_TMEM131_2aa 209–298UCSCTransmembrane protein 131 second Ig-like domain

Ig_TMEM131L_2ndaa 333–395UCSCTransmembrane protein 131-like, second Ig-like domain

Ig_TMEM131L_3aa 436–535UCSCTMEM131L third Ig-like domain

Ig_TMEM131L_4aa 836–973UCSCTMEM131L fourth Ig-like domain

Ig_TMEM131L_5aa 1023–1088UCSCTMEM131L fifth Ig-like domain

Gene Aliases

HGNC Name

transmembrane protein 131

HGNC Alias Symbols

CC28; YR-23; RW1; KIAA0257; PRO1048

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015348.2

p.K546R

c.1637A>G

Surrounding Variants

1 paper

NM_015348.2

p.E576_L577Splc

c.1729-1G>A

1 paper

NM_015348.2

p.W582S

c.1745G>C

1 paper

NM_015348.2

p.G586R

c.1756G>C

1 paper

NM_015348.2

p.G586R

c.1756G>A

1 paper

NM_015348.2

p.F501fs

c.1501_1502fs

1 paper

NM_015348.2

p.E475G

c.1424A>G

1 paper

NM_015348.2

p.K640*

c.1918A>T

1 paper

NM_015348.2

p.H645R

c.1934A>G

1 paper

NM_015348.2

p.T461I

c.1382C>T

1 paper

NM_015348.2

p.D436V

c.1307A>T

1 paper

NM_015348.2

p.D436Y

c.1306G>T

1 paper

NM_015348.2

p.S418Y

c.1253C>A