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.K1269M

c.3806A>T

Surrounding Variants

11 papers

NM_000051.4

p.K1269R

c.3806A>G

1 paper

NM_000051.4

p.V1268V

c.3804G>A

1 paper

NM_000051.4

p.S1270A

c.3808T>G

1 paper

NM_000051.4

p.S1270Y

c.3809C>A

2 papers

NM_000051.4

p.S1270F

c.3809C>T

1 paper

NM_000051.4

p.V1268G

c.3803T>G

1 paper

NM_000051.4

p.V1268insFs

c.3804dupG

1 paper

NM_000051.4

p.I1271_I1275insFs

c.3811_3824dup14

1 paper

NM_000051.4

p.I1271_I1275delFs

c.3811_3824del14

2 papers

NM_000051.4

p.V1268M

c.3802G>A

20 papers

NM_000051.4

p.V1268fs

c.3802_3803fs

2 papers

NM_000051.4

p.V1268fs

c.3802_3803fs