Varaico: Literature-Extracted Genetic Variants

BTN3A1

58 papers

RefSeq Summary

The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intrace...

Pfam Domains

V-setaa 35–144UCSCImmunoglobulin V-set domain

C2-set_3aa 146–232UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

PRYaa 342–390UCSCSPRY-associated domain

SPRYaa 394–506UCSCSPRY domain

Gene Aliases

HGNC Name

butyrophilin subfamily 3 member A1

HGNC Alias Symbols

BT3.1; BTF5; CD277; BTN3.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007048.6

p.L371M

c.1111C>A

Surrounding Variants

1 paper

NM_007048.6

p.L371L

c.1113G>A

1 paper

NM_007048.6

p.H381R

c.1142A>G

1 paper

NM_007048.6

p.D358H

c.1072G>C

1 paper

NM_007048.6

p.L385L

c.1155C>T

1 paper

NM_007048.6

p.E427K

c.1279G>A

3 papers

NM_007048.6

p.P456T

c.1366C>A

1 paper

NM_007048.6

p.T506M

c.1517C>T

1 paper

NM_007048.6

p.L336L

c.1008C>A

1 paper

NM_007048.6

p.E331Splc

c.991+106T>G

1 paper

NM_007048.6

p.G323E

c.968G>A

1 paper

NM_007048.6

p.R322Splc

c.964+1G>A

1 paper

NM_007048.6

p.T304A

c.910A>G