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.T1020fs

c.3058_3059fs

Surrounding Variants

1 paper

NM_000051.4

p.T1020A

c.3058A>G

1 paper

NM_000051.4

p.T1020S

c.3058A>T

5 papers

NM_000051.4

p.T1020I

c.3059C>T

3 papers

NM_000051.4

p.T1020insFs

c.3058dupA

2 papers

NM_000051.4

p.V1021_W1026delFs

c.3061_3077del17

1 paper

NM_000051.4

p.L1019P

c.3056T>C

2 papers

NM_000051.4

p.L1019I

c.3055C>A

2 papers

NM_000051.4

p.L1019fs

c.3055_3056fs

2 papers

NM_000051.4

p.L1019V

c.3055C>G

2 papers

NM_000051.4

p.V1021I

c.3061G>A

4 papers

NM_000051.4

p.V1021L

c.3061G>C

1 paper

NM_000051.4

p.V1021fs

c.3061_3062fs