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.F1018fs

c.3052_3053fs

Surrounding Variants

1 paper

NM_000051.4

p.Q1017Q

c.3051G>A

1 paper

NM_000051.4

p.Q1017H

c.3051G>C

1 paper

NM_000051.4

p.Q1017H

c.3051G>T

1 paper

NM_000051.4

p.F1018_F1025delFs

c.3052_3073del22

2 papers

NM_000051.4

p.L1019I

c.3055C>A

2 papers

NM_000051.4

p.Q1017fs

c.3049_3050fs

2 papers

NM_000051.4

p.L1019fs

c.3055_3056fs

2 papers

NM_000051.4

p.L1019V

c.3055C>G

5 papers

NM_000051.4

p.Q1017*

c.3049C>T

3 papers

NM_000051.4

p.Q1017fs

c.3049_3050fs

1 paper

NM_000051.4

p.Q1017_F1018delFs

c.3049_3052del4

1 paper

NM_000051.4

p.L1019P

c.3056T>C