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.T1143fs

c.3427_3428fs

Surrounding Variants

1 paper

NM_000051.4

p.T1143_L1144ins4

c.3427_3431ins12

1 paper

NM_000051.4

p.L1144insFs

c.3431dupT

1 paper

NM_000051.4

p.L1144_I1147del4

c.3430_3440del12

2 papers

NM_000051.4

p.T1143T

c.3429T>G

4 papers

NM_000051.4

p.E1142insFs

c.3426dupA

2 papers

NM_000051.4

p.E1142_T1143ins4

c.3424_3428ins12

4 papers

NM_000051.4

p.L1144*

c.3431T>A

1 paper

NM_000051.4

p.L1144S

c.3431T>C

1 paper

NM_000051.4

p.D1145del1

c.3433_3434delGAT

1 paper

NM_000051.4

p.P1141T

c.3421C>A

1 paper

NM_000051.4

p.D1145H

c.3433G>C

1 paper

NM_000051.4

p.D1145G

c.3434A>G