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.E1091delFs

c.3272_3273delAG

Surrounding Variants

3 papers

NM_000051.4

p.A1090V

c.3269C>T

1 paper

NM_000051.4

p.E1091_I1093del3

c.3271_3278del9

1 paper

NM_000051.4

p.A1090T

c.3268G>A

1 paper

NM_000051.4

p.A1090S

c.3268G>T

1 paper

NM_000051.4

p.E1091fs

c.3271_3272fs

1 paper

NM_000051.4

p.E1091*

c.3271G>T

1 paper

NM_000051.4

p.E1091fs

c.3271_3272fs

2 papers

NM_000051.4

p.A1089T

c.3265G>A

1 paper

NM_000051.4

p.E1091E

c.3273G>A

2 papers

NM_000051.4

p.E1091D

c.3273G>C

6 papers

NM_000051.4

p.A1089S

c.3265G>T

2 papers

NM_000051.4

p.E1091D

c.3273G>T