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

4 papers

NM_000051.4

p.N3003_R3012delFs

c.9007_9034del28

Surrounding Variants

4 papers

NM_000051.4

p.F3002L

c.9006C>A

4 papers

NM_000051.4

p.F3002L

c.9006C>G

2 papers

NM_000051.4

p.N3003fs

c.9007_9008fs

5 papers

NM_000051.4

p.N3003D

c.9007A>G

2 papers

NM_000051.4

p.N3003fs

c.9007_9008fs

2 papers

NM_000051.4

p.K3004_L3013delFs

c.9010_9037del28

1 paper

NM_000051.4

p.N3003T

c.9008A>C

15 papers

NM_000051.4

p.N3003S

c.9008A>G

1 paper

NM_000051.4

p.N3003I

c.9008A>T

4 papers

NM_000051.4

p.F3002L

c.9004T>C

1 paper

NM_000051.4

p.F3002V

c.9004T>G

1 paper

NM_000051.4

p.F3002fs

c.9004_9005fs