Varaico: Literature-Extracted Genetic Variants

Gene:TMEM131L
Variant:p.E1189Q

TMEM131L

68 papers

Pfam Domains

TMEM131_like_Naa 91–174UCSCTransmembrane protein 131-like N-terminal
Ig_TMEM131L_2ndaa 199–354UCSCTransmembrane protein 131-like, second Ig-like domain
Ig_TMEM131L_3aa 390–489UCSCTMEM131L third Ig-like domain
Ig_TMEM131L_4aa 592–723UCSCTMEM131L fourth Ig-like domain
Ig_TMEM131L_5aa 773–838UCSCTMEM131L fifth Ig-like domain

Gene Aliases

HGNC Name

transmembrane 131 like

HGNC Previous Symbol

KIAA0922

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001131007.2
p.E1189Q
c.3565G>C
Surrounding Variants
1 paper
NM_001131007.2
p.V1188I
c.3562G>A
1 paper
NM_001131007.2
p.Q1183H
c.3549G>C
1 paper
NM_001131007.2
p.Q1183H
c.3549G>T
2 papers
NM_001131007.2
p.S1174C
c.3521C>G
1 paper
NM_001131007.2
p.S1166L
c.3497C>T
1 paper
NM_001131007.2
p.S1165F
c.3494C>T
2 papers
NM_001131007.2
p.N1117I
c.3350A>T
1 paper
NM_001131007.2
p.T992A
c.2974A>G
1 paper
NM_001131007.2
p.L937L
c.2811C>T
1 paper
NM_001131007.2
p.A894fs
c.2680_2681fs
1 paper
NM_001131007.2
p.Q892_K903delFs
c.2675_2708del34
1 paper
NM_001131007.2
p.F891_M902delFs
c.2672_2705del34
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