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

2 papers

NM_000051.4

p.A1059S

c.3175G>T

Surrounding Variants

7 papers

NM_000051.4

p.A1059T

c.3175G>A

1 paper

NM_000051.4

p.A1059D

c.3176C>A

1 paper

NM_000051.4

p.A1059V

c.3176C>T

5 papers

NM_000051.4

p.W1058*

c.3174G>A

3 papers

NM_000051.4

p.W1058C

c.3174G>C

2 papers

NM_000051.4

p.W1058C

c.3174G>T

5 papers

NM_000051.4

p.W1058*

c.3173G>A

1 paper

NM_000051.4

p.W1058S

c.3173G>C

2 papers

NM_000051.4

p.W1058L

c.3173G>T

1 paper

NM_000051.4

p.I1060fs

c.3178_3179fs

2 papers

NM_000051.4

p.W1058R

c.3172T>A

2 papers

NM_000051.4

p.W1058R

c.3172T>C