Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.S474G

c.1420A>G

Surrounding Variants

1 paper

NM_000051.4

p.S474insFs

c.1420_1421insAG

1 paper

NM_000051.4

p.S474insFs

c.1421dupG

2 papers

NM_000051.4

p.S474N

c.1421G>A

1 paper

NM_000051.4

p.S474T

c.1421G>C

1 paper

NM_000051.4

p.S474I

c.1421G>T

1 paper

NM_000051.4

p.E473G

c.1418A>G

1 paper

NM_000051.4

p.S474R

c.1422C>A

1 paper

NM_000051.4

p.S475_S478del4

c.1423_1433del12

1 paper

NM_000051.4

p.E473K

c.1417G>A

1 paper

NM_000051.4

p.E473Q

c.1417G>C

2 papers

NM_000051.4

p.E473*

c.1417G>T

2 papers

NM_000051.4

p.S475T

c.1423T>A