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

3 papers

NM_015348.2

p.E1319Q

c.3955G>C

Surrounding Variants

3 papers

NM_015348.2

p.P1316L

c.3947C>T

1 paper

NM_015348.2

p.A1324T

c.3970G>A

1 paper

NM_015348.2

p.A1327T

c.3979G>A

1 paper

NM_015348.2

p.H1331D

c.3991C>G

1 paper

NM_015348.2

p.P1305H

c.3914C>A

1 paper

NM_015348.2

p.S1341I

c.4022G>T

1 paper

NM_015348.2

p.H1274Y

c.3820C>T

1 paper

NM_015348.2

p.S1256C

c.3767C>G

1 paper

NM_015348.2

p.S1242N

c.3725G>A

1 paper

NM_015348.2

p.G1191S

c.3571G>A

1 paper

NM_015348.2

p.R1173I

c.3518G>T

1 paper

NM_015348.2

p.D1164N

c.3490G>A